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Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
de Greef JC, Wang J, Balog J, den Dunnen JT, Frants RR, Straasheijm KR, Aytekin C, van der Burg M, Duprez L, Ferster A, Gennery AR, Gimelli G, Reisli I, Schuetz C, Schulz A, Smeets DFCM, Sznajer Y, Wijmenga C, van Eggermond MC, van Ostaijen-Ten Dam MM, Lankester AC, van Tol MJD, van den Elsen PJ, Weemaes CM, van der Maarel SM. de Greef JC, et al. Among authors: lankester ac. Am J Hum Genet. 2011 Jun 10;88(6):796-804. doi: 10.1016/j.ajhg.2011.04.018. Epub 2011 May 19. Am J Hum Genet. 2011. PMID: 21596365 Free PMC article.
Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes.
IJspeert H, Driessen GJ, Moorhouse MJ, Hartwig NG, Wolska-Kusnierz B, Kalwak K, Pituch-Noworolska A, Kondratenko I, van Montfrans JM, Mejstrikova E, Lankester AC, Langerak AW, van Gent DC, Stubbs AP, van Dongen JJ, van der Burg M. IJspeert H, et al. Among authors: lankester ac. J Allergy Clin Immunol. 2014 Apr;133(4):1124-33. doi: 10.1016/j.jaci.2013.11.028. Epub 2014 Jan 11. J Allergy Clin Immunol. 2014. PMID: 24418478 Free PMC article.
Successful RAG1-SCID gene therapy depends on the level of RAG1 expression.
Pike-Overzet K, Baum C, Bredius RG, Cavazzana M, Driessen GJ, Fibbe WE, Gaspar HB, Hoeben RC, Lagresle-Peyrou C, Lankester A, Meij P, Schambach A, Thrasher A, Van Dongen JJ, Zwaginga JJ, Staal FJ. Pike-Overzet K, et al. J Allergy Clin Immunol. 2014 Jul;134(1):242-3. doi: 10.1016/j.jaci.2014.04.033. Epub 2014 Jun 26. J Allergy Clin Immunol. 2014. PMID: 25117803 No abstract available.
Identification of checkpoints in human T-cell development using severe combined immunodeficiency stem cells.
Wiekmeijer AS, Pike-Overzet K, IJspeert H, Brugman MH, Wolvers-Tettero IL, Lankester AC, Bredius RG, van Dongen JJ, Fibbe WE, Langerak AW, van der Burg M, Staal FJ. Wiekmeijer AS, et al. Among authors: lankester ac. J Allergy Clin Immunol. 2016 Feb;137(2):517-526.e3. doi: 10.1016/j.jaci.2015.08.022. Epub 2015 Oct 4. J Allergy Clin Immunol. 2016. PMID: 26441229
269 results